| Literature DB >> 27038471 |
Malik Mumtaz Taqi1, Durdana Waseem2, Humaira Ismatullah3, Syed Aleem Haider4, Muhammad Faisal5,6.
Abstract
Single nucleotide polymorphisms (SNPs) in PLCE1 and MICB genes increase risk for the development of dengue shock syndrome (DSS). We used Bioinformatics tools to predict alterations at the transcriptional and posttranslational levels driven by PLCE1 and MICB SNPs associated with DSS. Functional and phenotypic analysis conducted to determine deleterious SNPs and impact of amino acid substitution on the structure and function of proteins identified rs2274223 (H1619R) as deleterious to protein coding as it induces structural change in the C2 domain of PLCε, with the mutant residue more positively charged than the wild-type residue (RMSD score, 1.75 Å). Moreover, rs2274223 condenses the chromatin-repressing PLCε expression in DSS. Briefly, this study presents the impact of a single nucleotide transition at SNPs associated with DSS on differential protein binding patterns with PLCE1 and MICB genes and on protein structure modification and their possible role in the pathogenesis of DSS.Entities:
Keywords: Dengue-associated SNPs; MICB; Mutated PLCε protein; Phospholipase C epsilon (PLCE1); Transcription factors
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Year: 2016 PMID: 27038471 PMCID: PMC4850189 DOI: 10.1007/s10142-016-0489-9
Source DB: PubMed Journal: Funct Integr Genomics ISSN: 1438-793X Impact factor: 3.410